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Solute carrier family 12

KCC3, SLC12A6
This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: KCC4, ACID, HAD, Rdl, POLYMERASE
Papers on KCC3
SPAK mediates KCC3-enhanced cervical cancer tumorigenesis.
New
Chou et al., Tainan City, Taiwan. In Febs J, 22 Apr 2014
UNLABELLED: Ste20-related proline-alanine-rich kinase (SPAK) plays a role in regulating many biological activities and interacts with the K-Cl cotransporter (KCC) 3; however, the importance of SPAK for KCC3 function has not been demonstrated.
The WNK-regulated SPAK/OSR1 kinases directly phosphorylate and inhibit the K+-Cl- co-transporters.
New
Zhang et al., Dundee, United Kingdom. In Biochem J, 15 Apr 2014
Secondly, STOCK1S-50699, a WNK pathway inhibitor, suppresses SPAK/OSR1 activation and KCC3A Site-2 phosphorylation with similar efficiency.
Molecular evidence for a role for K(+)-Cl(-) cotransporters in the kidney.
New
Gamba et al., Mexico. In Am J Physiol Renal Physiol, Dec 2013
K(+)-Cl(-) cotransporter (KCC) isoforms 3 (KCC3) and 4 (KCC4) are expressed at the basolateral membrane of proximal convoluted tubule cells, and KCC4 is present in the basolateral membrane of the thick ascending loop of Henle's limb and α-intercalated cells of the collecting duct.
N-terminal serine dephosphorylation is required for KCC3 cotransporter full activation by cell swelling.
New
Gamba et al., Mexico. In J Biol Chem, Dec 2013
Two phosphorylation sites (Thr-991 and Thr-1048) in KCC3 have been found to be critical for its regulation.
Potassium-chloride cotransporter 3 interacts with Vav2 to synchronize the cell volume decrease response with cell protrusion dynamics.
Rouleau et al., Montréal, Canada. In Plos One, 2012
Loss-of-function of the potassium-chloride cotransporter 3 (KCC3) causes hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), a severe neurodegenerative disease associated with defective midline crossing of commissural axons in the brain.
A trafficking-deficient mutant of KCC3 reveals dominant-negative effects on K-Cl cotransport function.
Delpire et al., Nashville, United States. In Plos One, 2012
In the process of cloning the mouse KCC3 cDNA, we came across a cloning mutation (E289G) that rendered the cotransporter inactive in functional assays in Xenopus laevis oocytes.
A new patient with Andermann syndrome: an underdiagnosed clinical genetics entity?
Caglayan et al., Ankara, Turkey. In Genet Couns, 2012
Andermann syndrome is an autosomal recessive disorder characterized by the agenesis of the corpus callosum and peripheral neuropathy (ACCPN).
Role of cholesterol in functional association between K(+)-Cl(-) cotransporter-3a and Na+,K(+)-ATPase.
GeneRIF
Sakai et al., Toyama, Japan. In Biochem Biophys Res Commun, 2012
these results suggest that cholesterol is essential for eliciting up-regulation of Na(+),K(+)-ATPase activity by KCC3a in the KCC3a-alpha1NaK complex.
KCC3-dependent chloride extrusion in adult sensory neurons.
GeneRIF
Scamps et al., Montpellier, France. In Mol Cell Neurosci, 2012
KCC3 contributes to Cl(-) extrusion in adult sensory neurons
Loss of neuronal potassium/chloride cotransporter 3 (KCC3) is responsible for the degenerative phenotype in a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum.
GeneRIF
Rouleau et al., Montréal, Canada. In J Neurosci, 2012
Neuropathic features of hereditary motor and sensory neuropathy/agenesis of corpus callosum in transgenic mouse lines are predominantly due to a neuronal KCC3 deficit, while the auditory impairment is due to loss of non-neuronal KCC3 expression.
High-grade glioma motility reduced by genetic knockdown of KCC3.
GeneRIF
Gagnon, Nashville, United States. In Cell Physiol Biochem, 2011
Genetic silencing of KCC3 with short hairpin interfering RNA reduced protein expression by 40 - 60%, K(+) influx by ~50%, and cell motility by ~50%.
K-Cl cotransporter gene expression during human and murine erythroid differentiation.
GeneRIF
Joiner et al., Cincinnati, United States. In J Biol Chem, 2011
KCC3 is the dominant isoform in erythrocytes, with variable expression of KCC1 and KCC4 that could result in modulation of KCC activity
Genetic factors underlying the risk of thalidomide-related neuropathy in patients with multiple myeloma.
Impact
Morgan et al., London, United Kingdom. In J Clin Oncol, 2011
RESULTS: We report TrPN associations with SNPs-ABCA1 (rs363717), ICAM1 (rs1799969), PPARD (rs2076169), SERPINB2 (rs6103), and SLC12A6 (rs7164902)-where we show cross validation of the associations in both trials.
Mutations affecting GABAergic signaling in seizures and epilepsy.
Review
Galanopoulou, United States. In Pflugers Arch, 2010
These include the chloride channel 2 (CLCN2) and the potassium chloride cotransporter KCC3.
Sites of regulated phosphorylation that control K-Cl cotransporter activity.
Impact
GeneRIF
Lifton et al., New Haven, United States. In Cell, 2009
Study identified two sites in KCC3 that are rapidly dephosphorylated in hypotonic conditions in cultured cells and human red blood cells in parallel with increased transport activity.
Roles of the cation-chloride cotransporters in neurological disease.
Review
Mount et al., Boston, United States. In Nat Clin Pract Neurol, 2008
These transporters include the Na-K-2Cl cotransporter NKCC1, which mediates chloride influx, and various K-Cl cotransporters--such as KCC2 and KCC3-that extrude chloride.
Functional significance of channels and transporters expressed in the inner ear and kidney.
Review
Wangemann et al., Tübingen, Germany. In Am J Physiol Cell Physiol, 2007
Defective connexins (GJB2 and GJB6), pendrin (SLC26A4), K(+) channels (KCNJ10, KCNQ1, KCNE1, and KCNMA1), Na(+)-2Cl(-)-K(+) cotransporter (SLC12A2), K(+)/Cl(-) cotransporters (KCC3 and KCC4), Cl(-) channels (BSND and CLCNKA + CLCNKB), and H(+)-ATPase (ATP6V1B1 and ATPV0A4) cause hearing loss.
Molecular genetics of bipolar disorder and depression.
Review
Kato, Wako, Japan. In Psychiatry Clin Neurosci, 2007
Several candidate genes for schizophrenia may also be associated with bipolar disorder: G72, DISC1, NRG1, RGS4, NCAM1, DAO, GRM3, GRM4, GRIN2B, MLC1, SYNGR1, and SLC12A6.
[Molecular genetics of inherited neuropathies].
Review
Takashima, Kagoshima, Japan. In Rinsho Shinkeigaku, 2006
Genetic studies have revealed the following gene mutations as the causes of inherited neuropathies; PMP22, MPZ, EGR2, SOX10, SIMPLE/LITAF, ARHGEF10 for CMT1 (autosomal dominant demyelinating form); GDAP1, MTMR2, SBF2/MTMR13, KIAA1985, NDRG1 PRX for CMT4 (autosomal recessive demyelinating form), MFN2, KIF1B, RAB7, GARS, NEFL, HSPB1, HSPB8 for CMT2 (autosomal dominant axonal form); LMNA, GAN1, KCC3, TDP1, APTX, SETX for AR-CMT2 (autosomal recessive axonal form); GIB1 for CMTX (X-linked CMT); DNM2 for CMT-DI (autosomal dominant CMT with intermediate nerve conduction velocities); and DHH for minifascicular neuropathy.
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
Impact
GeneRIF
Rouleau et al., Montréal, Canada. In Nat Genet, 2002
SLC12A6 has a role in the development and maintenance of the nervous system
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